The University of Wisconsin Undiagnosed Disease Program has been officially recognized and selected to join the National Institutes of Health (NIH) Undiagnosed Disease Network (UDN) as a Diagnostic Center of Excellence. The program’s X01 application was recently granted, with Bryn Webb, MD, associate professor, Division of Genetics and Metabolism, as the award’s PI. Webb’s co-PIs, all from the Division of Genetics and Metabolism, include April Hall, PhD, MS, CGC, assistant professor and associate director of research for the UW Genetic Counselor Studies Program; Kim Keppler-Noreuil, MD, professor and MGG Residency Director; and M. Stephen Meyn, MD, PhD, professor. The three-year award begins on April 1, 2025, and extends through March 31, 2028.
The Undiagnosed Disease Network is a research study backed by the NIH. Its purpose is to bring together clinical and research experts from across the US to solve the most challenging cases using advanced technologies. By joining this prestigious network, the UW Undiagnosed Disease Program will have the opportunity to work and collaborate with the top experts and UDPs in the nation, enhancing its capabilities in enrolling and evaluating patients with undiagnosed disease. It aims to bridge critical diagnostic gaps in rare diseases, with a particular focus on underserved populations in Wisconsin and Northern Illinois.
“This recognition as a Diagnostic Center of Excellence highlights the UW’s leadership in tackling the toughest medical challenges and brings new diagnostic resources to the people of Wisconsin,” Webb noted. “By joining the NIH network, we are ensuring that our patients and our state’s residents with rare disease have access to cutting-edge care and expertise.”
Co-investigators from the Department of Pediatrics who will serve on this project include:
- Janet Legare, MD, professor, Divisions of Genetics and Metabolism and Developmental Pediatrics and Rehabilitation Medicine
- Hara Levy, MD, MMSc, professor, Division of Pulmonology and Sleep Medicine
- Ryan McAdams, MD, professor, Division of Neonatology and Newborn Nursery
- Elizabeth Petty, MD, professor in the Division of Genetics and Metabolism and senior associate dean for academic affairs at the UW School of Medicine and Public Health
- J. Carter Ralphe, MD, professor and chief, Division of Cardiology
- Robert Steiner, MD, professor, Division of Genetics and Metabolism